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Gene Review:

FRAXF - fragile site, folic acid type, rare,...

Homo sapiens

This record was replaced with 84548.

Shaw, M.A. et al., Strelnikov, V. et al., Parrish, J.E. et al., Breschel, T.S. et al., Allingham-Hawkins, D.J. et al., et al.

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Disease relevance of FRAXF

FRAXA, FRAXE, and FRAXF are folate-sensitive fragile sites originally discovered in patients with X-linked mental retardation [1].

High impact information on FRAXF

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE [2].
Affected males do not show fragile sites at distal Xq on cytogenetic analysis, nor do they have expansions of the CGG repeats at the FRAXA, FRAXE, or FRAXF loci [3].
There are currently 13 diseases known to be caused by unstable triplet repeat mutations; however, there are some instances (as with FRAXF and FRA16) when these mutations appear to be asymptomatic [4].
The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter [5].
FRAXF is a fragile site whose expression has not been associated with any pathological phenotype [1].

Biological context of FRAXF

Three folate-sensitive fragile sites, termed FRAXA, FRAXE and FRAXF, have been identified on the distal end of chromosome Xq [2].
The data support the hypothesis that FRAXE is either very rare or a benign fragile site that is not associated with any clinical phenotype, similar to the FRAXF and FRA16A sites [6].
We have developed a rapid multiplex polymerase chain reaction (PCR) assay in which hypermethylated CpG islands adjacent to FRAXA, FRAXE, and FRAXF are displayed [1].
This gene, FAM11A, comprises at least seven exons, shows alternative splicing, and extends over 35 kb of genomic DNA distal to the FRAXF fragile site [7].
Examination of dinucleotide repeats near the FRAXF repeat will be important in testing this hypothesis [8].

Other interactions of FRAXF

Through analysis of the region adjacent to the fragile site, we have identified a approximately 2.6 kb cDNA originating from the FRAXF fragile site associated CpG island, and containing the unstable FRAXF CGG repeat in its 5' UTR region [7].

References

A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Strelnikov, V., Nemtsova, M., Chesnokova, G., Kuleshov, N., Zaletayev, D. Hum. Mutat. (1999) [Pubmed]
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Parrish, J.E., Oostra, B.A., Verkerk, A.J., Richards, C.S., Reynolds, J., Spikes, A.S., Shaffer, L.G., Nelson, D.L. Nat. Genet. (1994) [Pubmed]
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. Lindsay, S., Splitt, M., Edney, S., Berney, T.P., Knight, S.J., Davies, K.E., O'Brien, O., Gale, M., Burn, J. Am. J. Hum. Genet. (1996) [Pubmed]
A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. Breschel, T.S., McInnis, M.G., Margolis, R.L., Sirugo, G., Corneliussen, B., Simpson, S.G., McMahon, F.J., MacKinnon, D.F., Xu, J.F., Pleasant, N., Huo, Y., Ashworth, R.G., Grundstrom, C., Grundstrom, T., Kidd, K.K., DePaulo, J.R., Ross, C.A. Hum. Mol. Genet. (1997) [Pubmed]
The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Ritchie, R.J., Knight, S.J., Hirst, M.C., Grewal, P.K., Bobrow, M., Cross, G.S., Davies, K.E. Hum. Mol. Genet. (1994) [Pubmed]
FRAXE expansion is not a common etiological factor among developmentally delayed males. Allingham-Hawkins, D.J., Ray, P.N. Am. J. Hum. Genet. (1995) [Pubmed]
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation. Shaw, M.A., Chiurazzi, P., Romain, D.R., Neri, G., Gécz, J. Eur. J. Hum. Genet. (2002) [Pubmed]
Trinucleotide repeats at the FRAXF locus: frequency and distribution in the general population. Holden, J.J., Walker, M., Chalifoux, M., White, B.N. Am. J. Med. Genet. (1996) [Pubmed]

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